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Books > Medicine > Clinical & internal medicine > Diseases & disorders > Congenital diseases & disorders
A comprehensive work written by driving forces in the field,
defining the
In this book, Dr. Jesse Edwards shares his vast experience in a
discussion This book will serve as a unique and useful reference to broaden
the
The Bedside Dysmorphologist is a thoughtful clinical guide to common-and often quite subtle-congenital malformations in clinical exam. Organized by area of the body, each section provides the user with a concise, illustrated roadmap for assessment and differential diagnosis of highly nuanced elements of dysmorphology. Narrated by a world-class clinical geneticist and enriched with a library of original photos, it provides a safety net for physicians encountering abnormalities in physical exam. No other book in the market sets out to assist the pediatrician and other non-geneticists in how to interpret the clinical signs in syndromology and to lead the clinician to sensible conclusions, both in terms of clinical management and in terms of initiating of appropriate investigation. The Bedside Dysmorphologist distills a lifetime of clinical experience, nuance, and variation into a manageable volume, one that will instill confidence in clinicians and guide them through this arcane area of medicine.
The Understanding PAD chart presents an overall view of the symptoms and causes of Peripheral Artery Disease (PAD). A large graphic shows the vascular system with affected areas. Smaller views accompany the sections on stroke, thrombosis, atherosclerosis, along with blood clotting. Heavy gauge 3ml lamination with sealed edges and two metal eyelets for hanging makes chart highly durable. Write-on/wipe-off with dry erase marker (not included).
Based on some 30 years of research on people who claim to remember past lives, this work encompasses the full spectrum of theory and case study on the subject to date. Early in his investigations, Stevenson became aware that some who remember past lives had birthmarks or birth defects that corresponded to wounds, usually fatal, on the person whose life was remembered. The work suggests surprising answers to such questions as the following: Why does someone born with a birth defect have the one he or she has, instead of another one? Why do some children show phobias in early infancy when they have had no traumatic experiences and no model for the phobia in their family? Why are some monozygotic (one-egg) twins markedly different from each other? Why do many boys who later become homosexual show effeminate behavior in infancy before their parents can have influenced them to do so? Writing as a scientist and a Western medical professional. Stevenson realizes that the idea that wounds on a deceased person can influence the embryo of a later-born baby is subversive of many assumptions of modern biology. Knowing that each individual case has some flaw or weakness, he decided to publish the entire corpus of cases of this sort. Photographs of birthmarks and illustrations of weapons form part of the evidence in this daring and explorative reaearch. This work will be of particular interest to physicians, psychiatrists, biologists, and anthropologists. In addition, those concerned with paranormal phenomena and the mind-brain problem will find this work challenging.
John T. Alexander's study dramatically highlights how the Russian people reacted to the Plague, and shows how the tools of modern epidemiology can illuminate the causes of the plague's tragic course through Russia. Bubonic Plauge in Early Modern Russia makes contributions to many aspects of Russian and European history: social, economic, medical, urban, demographic, and meterological. It is particularly enlightening in its discussion of eighteenth-century Russia's emergent medical profession and public health institutions and, overall, should interest scholars in its use of abundant new primary source material from Soviet, German, and British archives.
For thousands of loving and concerned parents of autistic children, the suspicion that something may be wrong comes long before the clinical diagnosis of autism, PDD (pervasive developmental disorder), or Asperger's syndrome. When rounds of testing and consultations confirm parents' worst fears, their emotional turmoil is matched by an overriding practical concern: What do we do next? The World of the Autistic Child is by far the most complete and comprehensive book ever written for the parents of autistic children, and for the teachers, child specialists, and other professionals that care for them. Written by Dr. Bryna Siegel, a developmental psychologist and director of a large university clinic for autistic children, it provides help and hope not only for the children, but for their families--the parents, grandparents, siblings, and other caregivers who must come to grips with their own grief and confusion following a diagnosis of autism or other related disorder. Dr. Siegel believes that parents' best defense is to acquire, as early as possible, the knowledge and the parenting skills they will need to work with professionals to help their child fulfill his or her potential. This book, therefore, is about understanding the diagnosis of autism, the available treatments, and how to decide what is best for a particular child with autism or PDD. Straightforward and sympathetic, Dr. Siegel guides readers through the thicket of symptoms and labels, explaining the crucial importance of intensive early education, and how to find the resources and help that are available. Behavior modification, the development of daily living skills, guidelines for selecting and designing schooling, mainstreaming, the role for traditional academics in educating higher functioning children and young people, building effective parent-teacher relationships, psychoactive medications, and dealing with the possibility of residential placement are all covered. Dr. Siegel teaches parents and professionals to use their own common sense and personal observations in evaluating the many highly publicized but unorthodox and often untested treatments for autism, including the much-touted facilitated communication (F/C), holding therapy, auditory training, "Options" therapy, allergy treatments, and special diets. Pulling together a wealth of long-needed information on the latest educational and medical advances, The World of the Autistic Child is a superb guide and resource that no one who cares about autistic or developmentally disabled young people will want to be without.
'Congenital Heart Disease in the Right Heart' is an exhaustive review of the malformations of the right ventricle with particular emphasis on the ability of the ventricle to support circulation and the results of right heart malformations on circulation. Edited by the world's foremost authorities on the subject, the book benefits from an international team of contributors.
Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. A premutated form of the same gene is also the basis for neurological disabilities in adults. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome. This is a straightforward introduction that clearly explains the condition on both a scientific and practical level. With sections on diagnosis, symptoms and treatment, as well as discussions of various emotional and behavioural considerations, this guide covers all aspects of Fragile X syndrome, its implications, and the possibilities open to families affected by it. It demonstrates how, with the right therapies, progress can be made and emphasises how music can be used effectively to promote communication, interaction, fine motor skills and responsiveness in children with the condition. This is an essential reference tool for families of individuals with Fragile X syndrome, as well as therapists and healthcare professionals who are unfamiliar with the condition and are looking to find out more.
Fragile X syndrome is the most common inherited form of mental retardation. Now substantially revised and updated, this acclaimed book discusses the clinical approach to diagnosing the disorder, supported by the latest research in epidemiology, molecular biology and genetics, and neuropsychology. It also presents information on treatment: genetic counseling, pharmacotherapy, intervention, and gene therapy.
Every year, thousands of people die or suffer chronic disability as the result of inherited diseases of the cardiovascular system. In many cases, diagnosis of inherited disease is delayed or missed owing to a lack of awareness, and an even greater number of relatives are exposed to unnecessary risk. This new edition of Inherited Cardiac Disease provides a comprehensive summary of the aetiology, presentation, and management of genetic disorders of the cardiovascular system. Fully updated to reflect the advances in molecular genetic technologies and the publication of national guidelines for the management of families with inherited cardiac diseases, it retains the first edition's broad scope and applicability to all members of the multidisciplinary team, from specialists in cardiology and clinical genetics, to genetic counsellors, paediatricians, nurse specialists, and GPs who may come into contact with families presenting with inherited cardiac diseases. Containing both a short section on the general principles of cardiovascular genetics, individual disorders are then examined in detail, each featuring a clinical summary, diagnostic tests and special investigations, and treatments relevant to each inherited cardiac disease. Written in the succinct bullet-point style of the Oxford Specialist Handbooks, this new edition of Inherited Cardiac Disease delivers key information in an accessible manner, and is an invaluable guide to anyone who works with patients who are affected by inherited diseases of the cardiovascular system in their practice.
The Understanding PAD chart presents an overall view of the symptoms and causes of Peripheral Artery Disease (PAD). A large graphic shows the vascular system with affected areas. Smaller views accompany the sections on stroke, thrombosis, atherosclerosis, along with blood clotting. Heavy cover stock with protective varnish for durability.
The page-turning, never-before-told story of Kim Campbell's roller-coaster thirty-four-year marriage to music legend Glen Campbell, including how Kim helped Glen finally conquer his addictions only to face their greatest challenge when he was diagnosed with Alzheimer's disease. Kim Campbell was a fresh-faced twenty-two-year-old dancer at Radio City Music Hall when a friend introduced her to Glen Campbell, the chart-topping, Grammy-winning, Oscar-nominated entertainer. The two performers from small Southern towns quickly fell in love, a bond that produced a thirty-four-year marriage and three children. In Gentle on My Mind, Kim tells the complete, no-holds-barred story of their relationship, recounting the highest of highs-award shows, acclaimed performances, the birth of their children, encounters with Mick Fleetwood, Waylon Jennings, Alan Jackson, Alice Cooper, Jane Seymour, and others-and the lowest of lows, including battles with alcohol and drug addiction and, finally, Glen's diagnosis, decline, and death from Alzheimer's. With extraordinary candor, astonishing bravery, and a lively sense of humor, Kim reveals the whole truth of life with an entertainment giant and of caring for and loving him amid the extraordinary challenge of Alzheimer's disease. This is a remarkable account of enduring love, quiet strength, and never-faltering faith.
International uproar followed the recent announcement of the birth of twin girls whose genomes had been edited with a breakthrough DNA editing-technology. This technology, called clustered regularly interspaced short palindrome repeats or CRISPR-Cas9, can alter any DNA, including DNA in embryos, meaning that changes can be passed to the offspring of the person that embryo becomes. Should we use gene editing technologies to change ourselves, our children, and future generations to come? The potential uses of CRISPR-Cas9 and other gene editing technologies are unprecedented in human history. By using these technologies, we eradicate certain dreadful diseases. Altering human DNA, however, raises enormously difficult questions. Some of these questions are about safety: Can these technologies be deployed without posing an unreasonable risk of physical harm to current and future generations? Can all physical risks be adequately assessed, and responsibly managed? But gene editing technologies also raise other moral questions, which touch on deeply held, personal, cultural, and societal values: Might such technologies redefine what it means to be healthy, or normal, or cherished? Might they undermine relationships between parents and children, or exacerbate the gap between the haves and have-nots? The broadest form of this second kind of question is the focus of this book: What might gene editing-and related technologies-mean for human flourishing? In the new essays collected here, an interdisciplinary group of scholars asks age-old questions about the nature and well-being of humans in the context of a revolutionary new biotechnology-one that has the potential to change the genetic make-up of both existing people and future generations. Welcoming readers who study related issues and those not yet familiar with the formal study of bioethics, the authors of these essays open up a conversation about the ethics of gene editing. It is through this conversation that citizens can influence laws and the distribution of funding for science and medicine, that professional leaders can shape understanding and use of gene editing and related technologies by scientists, patients, and practitioners, and that individuals can make decisions about their own lives and the lives of their families.
Cystic Fibrosis: The Facts provides a much needed simple and
understandable source book about this disease. It is aimed at those
living with Cystic Fibrosis (CF), either themselves or members of
their families or their friends.
Down syndrome is a genetic condition which causes varying degrees
of learning disability as well as other health problems. Nearly one
baby in every 1000 born in the UK has the condition. Parents are
often frightened and confused by the birth of a baby with Down
syndrome, and they need reassurance as well as up-to-date
information regarding the condition.
The term Spondylarthitides refers to a group of common rheumatic
disorders affecting the spine and peripheral joints. The
distribution of this disease is world-wide, with both men and women
affected (the average age of onset being below 30 years). These
also serve as a model system for understanding the interaction
between disease-inducing micro-organisms, and
genetically-susceptible host, since both of these components are
particularly well defined in the spondylarthopathies. They are
therefore of great interest from the point of veiw of understanding
the pathogenesis of inflammatory and autoimune diseases, such as
arthritis, inflammatory bowel disease, and insulin dependent
diabetes mellitus, all of which involve an interplay of microbial
and genetic factors. The Spondylarthritides provides up to date, in
depth reviews of the current state of knowledge of the genetic,
epidemiologic, microbiologic, and immunologic aspects of these
disorders.
Die arterio-venosen Anastomosen, welche als nichtkapillare, unmittelbare Verbindungen zwischen der arteriellen Hochdruck-und der venosen Niederdruck- leitung unter den Sondereinrichtungen in der peripheren Strombahn zweifellos eine besonders bedeutsame Rolle spielen, sind bis zu dem Erscheinen der ersten Auflage vorliegender Monographie (Verlag J. A. Barth, Leipzig, 1939) vorzugsweise Gegenstand anatomischer Untersuchungen gewesen, haben aber seitdem auch von physiologischer, pathologischer und klinischer Seite eine zunehmende Beachtung gefunden, wie die zahlreichen Aussagen uber Vorkommen und Funktion dieser derivatorischen GefaBabschnitte zeigen. Die in dem letzten J ahrzehnt gelungene Aufdeckung von neuen Fundorten und von verschiedenen Bauformen der arterio-venosen Anastomosen sowie die Beobachtung, daB an den Orten ihres regelmaBigen Vorkommens vielfach GefaB- organe ausgebildet sind, die zwar aIle histologischen Merkmale epitheloidzelliger Nebenschlusse besitzen, aber keine unmittelbaren Verbindungen zwischen Arterien und Venen, sondern organartig gebaute prakapillare Strecken der arteriellen Strombahn sind, haben eine weitgehende NeuGBPassung der Darstellung notwendig gemacht. Unsere Kenntnisse von der funktionellen Bedeutung der arterio-venosen Anastomosen stecken ungeachtet aller Bemuhungen noch immer sozusagen in den Kinderschuhen; hat die Auffassung, daB aIle derartigen GefaBverbindungen durch die gleichen Baueigentiimlichkeiten gekennzeichnet sind, aufgegeben werden mussen, so stellt sich damit andererseits die Frage nach der funktionellen Rolle der verschiedenen Bauformen, welche bis heute keineswegs befriedigend beantwOl"tet werden kann.
Jahrlich werden in Deutschland ca. 1.000 kunstliche Befruchtungen durchgefuhrt (sog. heterologe kunstliche Befruchtung). Insbesondere der Samenspender, aber auch alle anderen beteiligten Personen gehen dabei ein rechtliches Risiko ein - haufig ohne es zu wissen. Die Autorin entwickelt Moglichkeiten der zivilrechtlichen Haftungsfreistellung des Samenspenders und stellt ihre Alternative vor: die "rechtsfolgenlose Vaterschaftsfeststellungsklage." "
Following on from the success of the international best-seller "Key Questions in Cardiac Surgery", the long-awaited KEY QUESTIONS IN CONGENITAL CARDIAC SURGERY will be the latest book in the Key Questions series to be released. Key Questions in Congenital Cardiac Surgery will systematically cover all the main topics involved in the current practice of a congenital cardiac surgeon. It will incorporate current guidelines for practice (such as from the American College of Cardiology, American Heart Association, British Paediatric Cardiac Association and European Society of Cardiology) and up-to-date information based on current literature. Each chapter will be structured to include the aetiology, pathophysiology, clinical features, indications for surgery, peri-operative management, surgical options and postoperative care. Possible complications will be discussed and the results of current practice presented. Importantly, there will be a section on basic sciences related to the practising congenital cardiac surgeon and a further section on congenital cardiac investigations with many images illustrating the variety of pathologies. Each chapter will also contain important references for further reading and greater depth of knowledge. The data and body of knowledge presented in this book is strictly evidence-based and is relevant to all congenital cardiac surgical trainees, at any stage of their training programme. It will provide residents, fellows and specialist registrars the necessary information to carry out their daily duties. Congenital cardiologists and paediatric cardiac intensive care unit specialists will also find the book useful in terms of the indications and surgical management of these patients, as they are integral to the congenital cardiac surgical process. Another important group is the nursing staff, physiotherapists and other professions allied to medicine working with patients with congenital cardiac disease either pre-operatively or postoperatively, as it will help to give a detailed understanding of the principles surrounding congenital cardiac surgical disease. Most importantly, the book is ideal as a revision aid for residents/registrars undertaking their Cardiothoracic Surgery Board examinations around the world. Although these examinations vary in format in different countries, this book is applicable to all cardiothoracic surgical trainees. Its concise, yet complete coverage of the important topics, make it the ideal guide to answer the key questions in congenital cardiac surgery that are asked within the confines of an examination.
Cosa si prova a non poter avere un figlio? Quanto e difficile comunicare alla coppia una diagnosi di sterilita? Come affrontare il 70% dei fallimenti delle tecniche di PMA? Come una legge puo' incidere sul futuro di un embrione? Il testo, nato dalla fusione multidisciplinare medica, psicologica e sociologica, vuole riflettere su queste domande e accompagnare il lettore in una nuova forma mentis sulle criticita nella fecondazione assistita. La trama scientifica si accompagna a un linguaggio diretto dove hanno un posto rilevante le emozioni, cosi' centrali in campi quali la ginecologia, la riproduzione e la psicologia dell'infertilita, che vanno al cuore del bisogno psico-sessuale piu forte e arcaico: quello riproduttivo. Al centro del volume e la relazione medico-paziente che, nel campo dell'infertilita, e caratterizzata dall'attivazione di forti echi emotivi da parte di entrambi. Il volume, a tale riguardo, propone il protocollo SAHARAI che comprende due metodi inediti (il questionario e il nurse-ring) capaci di intervenire, rispettivamente, nella fase diagnostica e in quella terapeutica della fecondazione. I metodi e le riflessioni proposti sono volti alla riduzione dei disagi psicologici delle coppie e al riequilibrio del rapporto medico-paziente. Dal testo emerge forte una nuova idea di formazione per gli operatori dei centri di fecondazione assistita e un percorso di qualificazione per le nuove figure professionali (gli psicologi addetti alla PMA) in accordo con le nuove direttive della legge."
"Adopted at Cambridge University" Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders. This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes. "Essential Medical Genetics" is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book). The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions.
Die moderne Reproduktionsmedizin wird oftmals als letzte Chance von Partnern ausgewahlt, um ihren starken, bisher unerfullten Wunsch nach einem eigenen Kind einzuloesen - ungeachtet dessen, dass sie oeffentlich sehr kontrovers diskutiert werden und haufig auf grosse Ablehnung stossen. Die Teilnahme an einer Reproduktionsbehandlung ist kostenintensiv: Zusatzlich zu den finanziellen Kosten der medizinischen Behandlung kommen noch weitere subjektive Kosten hinzu, so z.B. ein erheblicher Zeitaufwand wahrend der Fertilisierungstherapien oder aber auch das Ertragen koerperlicher und psychischer Belastungen. Die vorliegende Arbeit erforscht die Einstellung der Betroffenen zur Reproduktionsmedizin und was sie mit einem Kind verbinden. Daruber hinaus wird erforscht, wie die ungewollt kinderlosen Partner die koerperlichen, psychischen und finanziellen Belastungen erleben und bewerten.
Die medizinische Behandlung der ungewollten Kinderlosigkeit wird hierzulande nach wie vor mit einer Mischung aus Interesse am medizinisch-technischen Fortschritt und Sorge uber die mogli- cherweise nicht mehr kalkulierbaren Risiken dieses Fortschrittes betrachtet. Die Reaktionen reichen dabei von der implizi ten Gleichsetzung konkreter Formen der Reproduktionsmedizin mit den fiktiven Verhaltnissen in der 'Schonen Neuen welt'1, bis hin zu Einschatzungen, wonach sich die Reproduktionsmedizin in naher Zukunft als ein unverzichtbares Instrument bei der Bekampfung eines langandauernden Bevolkerungsruckganges in der BRD erweisen 2 werde. Auch wenn sich in den letzten 5-10 Jahren das Interesse der Offentlichkeit verstarkt den verschiedenen Formen der medizini- 3 schen Behandlung ungewollter Kinderlosigkeit zugewandt hat, so scheint mit diesem verstarkten Interesse kein Anstieg der Anzahl Der Vergleich des heutigen Potentials der Reproduk- tionsmedizin mit den Schilderungen der industriellen Erzeugung von Menschen in A. Huxleys Roman "Schone Neue Welt" gehort zu den Standardbildern in weiten Teilen der Literatur uber die medizinische Behandlung der ungewollten Kinderlosigkeit. So z.B. auch bei: Hirsch, G. und Eberbach W. (1987): Auf dem Weg zum kunstlichen Leben - Retortenkinder, Leihmutter, pro- grammierte Gene Basel, Boston, Stuttgart. S.31ff. 2 So ein Reproduktionsmediziner in der Fernsehsendung 'Explosiv' (RTL 22.5.'91). 3 Man denke z. B. nur an die Kontroversen im Zuge der Erarbeitung des Embryonenschutzgesetzes, an die Richt- linien zur Durchfuhrung der In-vitro-Fertilisation der Bundesarztekammer, an die Initiativen auf dem 56.
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